Literature DB >> 1642239

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

C Wijmenga1, L A Sandkuijl, P Moerer, N van der Boorn, S E Bodrug, P N Ray, O F Brouwer, J C Murray, G J van Ommen, G W Padberg.   

Abstract

A genetic map of five polymorphic markers in the area of the facioscapulohumeral muscular dystrophy (FSHD) gene on chromosome 4q35-qter has been constructed. With these five markers, a number of recombinants have been identified that allow ordering of the marker and the disease loci. The most likely locus order and the relative position of the FSHD gene supported by the recombinants is centromere-D4S171-F11-D4S187-D4S163-D4S139-FS HD-telomere. However, at least one recombination event appears to be inconsistent with this order and suggests a location of FSHD proximal to D4S139.

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Year:  1992        PMID： 1642239      PMCID： PMC1682695     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  21 in total

1.  Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Authors:  Rinse Klooster; Kirsten Straasheijm; Bharati Shah; Janet Sowden; Rune Frants; Charles Thornton; Rabi Tawil; Silvère van der Maarel
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

2.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

3.  Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.

Authors:  Charis L Himeda; Céline Debarnot; Sachiko Homma; Mary Lou Beermann; Jeffrey B Miller; Peter L Jones; Takako I Jones
Journal:  Mol Cell Biol       Date:  2014-03-17       Impact factor: 4.272

4.  A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S T Winokur; B Schutte; B Weiffenbach; S S Washington; D McElligott; A Chakravarti; J H Wasmuth; M R Altherr
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

5.  High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

Authors:  M Zatz; S K Marie; M R Passos-Bueno; M Vainzof; S Campiotto; A Cerqueira; C Wijmenga; G Padberg; R Frants
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

6.  The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.

Authors:  C Wijmenga; S T Winokur; G W Padberg; M I Skraastad; M R Altherr; J J Wasmuth; J C Murray; M H Hofker; R R Frants
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

7.  The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

Authors:  S T Winokur; U Bengtsson; J Feddersen; K D Mathews; B Weiffenbach; H Bailey; R P Markovich; J C Murray; J J Wasmuth; M R Altherr
Journal:  Chromosome Res       Date:  1994-05       Impact factor: 5.239

8.  How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.

Authors:  S Eggers; M Zatz
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

9.  CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.

Authors:  Charis L Himeda; Takako I Jones; Peter L Jones
Journal:  Mol Ther       Date:  2015-11-03       Impact factor: 11.454

Review 10.  Current Therapeutic Approaches in FSHD.

Authors:  Leo H Wang; Rabi Tawil
Journal:  J Neuromuscul Dis       Date:  2021
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